Varaico: Literature-Extracted Genetic Variants

Gene:WDR35
Variant:p.G72Splc

WDR35

189 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

Beta-prop_WDR35_TULP_Naa 1–332UCSCWDR35/TULP4 N-terminal
Beta-prop_WDR35_2ndaa 337–667UCSCWDR35 second beta-propeller
TPR_IFT80_172aa 698–803UCSCIFT80/172/WDR35/WDR19 TPR domain
TPR_WDR35aa 911–980UCSCWD repeat-containing protein 35, TPR repeats
TPR_IFT121aa 1021–1120UCSCIFT121-like, TPR repeats
Zf_2nd_IFT121aa 1138–1181UCSCIFT121, second zinc finger domain

Gene Aliases

HGNC Name

WD repeat domain 35

HGNC Alias Symbols

MGC33196; KIAA1336; IFT121; IFTA1; FAP118; CFAP118

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020779.4
p.G72Splc
c.215-8T>G
Surrounding Variants
1 paper
NM_020779.4
p.V74fs
c.220_221fs
1 paper
NM_020779.4
p.G93R
c.277G>C
1 paper
NM_020779.4
p.G93R
c.277G>A
1 paper
NM_020779.4
p.L94F
c.280C>T
1 paper
NM_020779.4
p.H70R
c.209A>G
10 papers
NM_020779.4
p.G69D
c.206G>A
1 paper
NM_020779.4
p.L55R
c.164T>G
1 paper
NM_020779.4
p.D48fs
c.142_143fs
3 papers
NM_020779.4
p.D48Splc
c.143-18T>A
1 paper
NM_020779.4
p.G103Splc
c.308-13T>G
2 papers
NM_020779.4
p.G103V
c.308G>T
2 papers
NM_020779.4
p.R113*
c.337C>T
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